Πέμπτη 10 Μαΐου 2018

The Ancestral Pace of Variant Reclassification

Genetic testing for cancer susceptibility became common in the mid-1990s with the availability of BRCA1/BRCA2 sequence-based testing, followed by Lynch syndrome and other more rare disorders. In the intervening 20 years, there has been an enormous growth in our knowledge of sequence variation in both disease and normal populations, compounded with several increasingly complex variant classification schemes (1,2).

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